Background: Peroxisomal acyl CoA oxidase deficiency is a very rare neurodegenerative disorder characterised by postnatal hypotonia, seizures, and neurological regression in early infancy. Case Presentation: Here, we present a case of two children in a family affected with peroxisomal acyl CoA oxidase deficiency. Early onset of hypotonia, seizures, and psychomotor delay was observed in both the sibs. Plasma levels of very long chain fatty acids showed normal levels of phytanic acid, pristanic acid, C22, C24, C26, C26/C22, and C24/C22 ratios. Here, we describe a case where women in her second trimester and with two affected siblings with peroxisomal acyl CoA oxidase deficiency was referred to institute for genetic counselling. Conclusion: Clinical exome analysis of the couple, two affected sibs and the fetus adds new insight into the clinical, neuroradiological, and molecular aspects of this disorder that represents one of the rarer inherited defects of peroxisomal function. Continue Reading

Background: Spontaneous muscle hematomas (SMH) are rare but potentially life-threatening. We report three patients with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pneumonia who developed hemorrhagic shock, due to large SMHs, during their intensive care unit stay. Case Presentation: All the patients were receiving mechanical ventilation and anticoagulation therapy with enoxaparin. The bleeding was located in the gluteal muscles in two of the patients and in the iliopsoas muscle with retroperitoneal extension in the other. Anemia and hemodynamic instability were the main signs; however, because of their gradual onset, they were initially confused with the anemia of the critically ill patient and sepsis related to secondary infections. All received conservative medical treatment, but unfortunately one patient died within hours of diagnosis. Conclusion: This report highlights that clinicians should also be alert to major spontaneous hemorrhage in patients with SARSCoV- 2 infection. Since it is a novel disease, a possible association... Continue Reading

Background: Severe acute respiratory syndrome has been implicated in a wide spectrum of cardiovascular complications, from mild elevation in troponins to more severe cases such as pericarditis, cardiac tamponade, and myocarditis. We present a case of delayed onset of pericarditis in a patient with COVID-19 pneumonia. Case Presentation: A 68-year-old woman presented to the emergency department with fever for 5 days, weakness, and fatigue. Diagnosis of COVID-19 pneumonia with superimposed bacterial infection was made. By day 22 of hospitalization, new T wave elevations were seen in cardiac monitoring and confirmation was made with EKG and diagnosis of pericarditis was made. Initial troponin was Continue Reading

Background: Tyrosine hydroxylase (TH) deficiency is a very rare genetic disorder of monoamine synthesis which – alongside Guanosine triphosphate (GTP) cyclohydrolase deficiency - is one of the metabolic dopa-responsive dystonias. These disorders classically present as a dystonia with onset in adolescence which is non-progressive and responds to standard dopaminergic treatment: however, little is known about the relationship between TH deficiency and psychiatric illness. Case Presentation: We describe a case of a young woman who, in the absence of any heralding psychiatric symptomatology of any nature, developed a severe and limiting panic disorder at around the time of onset of her movement disorder in the setting of TH deficiency, which impacts dopamine synthesis. Conclusion: Neurometabolic disorders that affect neurotransmitter function frequently present with psychiatric symptomatology and can provide models for understanding some frequently presenting psychiatric illnesses such as depression and anxiety. We discuss the interplay between the dopaminergic and serotonergic systems,... Continue Reading

Background: The “TEMPI” syndrome consists of five distinct clinical features: telangiectasias (T), erythrocytosis with elevated erythropoietin (EPO) levels (E), monoclonal gammopathy (M), peri-nephric fluid collections (P), and intrapulmonary shunting (I). The etiology, pathogenesis, and prevalence of this ultrarare syndrome is still being elucidated. Case Presentation: A 57-year old man was being investigated for secondary erythrocytosis. On examination he had telangiectasias over his trunk. His workup revealed high serum EPO levels, a monoclonal paraprotein band on serum protein electrophoresis and Immunofixation, peri nephric fluid on CT abdomen, and evidence of intrapulmonary shunting on arterial blood gas and an echocardiogram with bubble study. He fulfilled the diagnostic criteria for TEMPI syndrome. For reasons of worsening dyspnea, he initiated treatment and received two cycles of bortezomib, cyclophosphamide, and dexamethasone chemotherapy. Treatment was discontinued as he developed steroid induced myopathy. Planning is underway for the patient to receive daratumumab monotherapy. Conclusion: Uptil now, 23... Continue Reading

Background: Emphysematous osteomyelitis is a rare but fatal condition, caused by gas-forming bacteria. We reported a rare case of emphysematous osteomyelitis of left femur in a 27-year-old diabetic male, diagnosed on Tc99m methylene diphosphonate (MDP) single photon emission computed tomography-computed tomography (SPECT-CT) scintigraphy. The pattern of uptake in emphysematous osteomyelitis on Tc99m MDP SPECT-CT scintigraphy was not reported previously. Case Presentation: A 27-year-old diabetic male patient presented with history of pain in left thigh and fever for 10 days. He was referred to nuclear medicine department for Tc99m MDP bone scan. He had no history of trauma or surgery, and his radiograph of left femur was unremarkable at presentation. Tc99m MDP SPECT-CT scintigraphy showed abnormal uptake in femur with intraosseous air, pathognomic of emphysematous osteomyelitis. Further imaging by magnetic resonant imaging (MRI) showed edematous changes in the musculature of left thigh with marrow replacement changes in left femur favoring the... Continue Reading